Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis Kálmán Tory, Caroline Rousset-Rouvière, Marie-Claire Gubler, Vincent Morinière, Audrey Pawtowski, Céline Becker, Claude Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie-France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon Kidney International Volume 75, Issue 8, Pages 839-847 (April 2009) DOI: 10.1038/ki.2008.662 Copyright © 2009 International Society of Nephrology Terms and Conditions

Figure 1 Schematic diagram of the localization of the detected NPHP2 and NPHP3 mutations with respect to the exons and to the functional protein domains. (a) Inversin, the product of the NPHP2/INVS gene, contains 16 tandem ankyrin repeats (gray boxes), two IQ calmodulin-binding domains (hatched boxes), and two destruction box regions (black bars). (b) Nephrocystin-3, the product of the NPHP3 gene, contains a coiled-coil domain (CC), a tubulin tyrosine ligase domain (TTL), and a tetratricopeptide-repeat domain (TPR). Most of the mutations map within the TPR domain. Kidney International 2009 75, 839-847DOI: (10.1038/ki.2008.662) Copyright © 2009 International Society of Nephrology Terms and Conditions

Figure 2 Both ‘juvenile’ and ‘infantile’ type histological features were found in patients with infantile NPH. (a) Renal cortex characteristic of the infantile-type NPH. Irregular microcystic dilatation of cortical tubules. Absence of significant tubular basement membrane thickening. Interstitial fibro-edema. Normal glomeruli (light microscopy, periodic acid-Schiff (PAS) stain, × 250). (b) Renal cortex characteristic of the juvenile type. Most of the tubular basement membranes are thickened and laminated. Tubules are surrounded by a marked interstitial fibrosis with focal and moderate cell infiltration (light microscopy, PAS stain, × 280) (c). Microcystic dilatations of cortical tubules in a patient without NPHP2/NPHP3 mutations (F299-1). Most adjacent tubules are dedifferentiated; few are surrounded by a thickened basement membrane (light microscopy, PAS stain, × 280). Kidney International 2009 75, 839-847DOI: (10.1038/ki.2008.662) Copyright © 2009 International Society of Nephrology Terms and Conditions